Developmental Disorders of the Lymphatics

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Saturday, December 17, 2005

Turner Syndrome

Classification: Primary Hereditary Lymphedema with other symptoms

Named after Dr. Henry Turner who was one of the first to describe its features in the 1930's. An internist at the University of Oklahoma, he first identified a common set of traits or physical features in seven of his patients in an article published in 1938. This is a chromosomal condition caused when one of the two x chromosomes normally found in females is missing or incomplete. However, the actual chromosomal deficiency was not identified until 1959.

The condition is diagnosed, or confirmed by a blood test called a kerotype. The test analyzes the chromosomal composition of the individual. Another unique feature of Turner Syndrome is that is occurs only in females.

Characteristics include short stature, lack of ovarian development, webbed neck and/or arms, low hairline at the base of the neck. Other reported signs include cardio-vascular difficulties, kidney and thyroid problems, and scoliosis. Another complication of Turner Syndrome is lymphedema.Because this is a chromosomal based disorder there is no cure. There are treatments however that can lesson the symptoms. These include growth hormone, estrogen replacement therapy.


Turner Syndrome:

Affects only females because it is sex-linked.* Frequently the lymphatic system, (specifically the valves), is underdeveloped, resulting in childhood lymphoedema. This sometimes resolves by adolescence. Other features of Turner’s Syndrome include short stature, infertility, and sometimes problems with the heart, kidney, or thyroid.(XO instead of XX chromosome; not hereditary]


What is Turner syndrome?


Turner Syndrome Society of the United States


Turner Society Syndrome Support Society

Turner syndrome [TS] is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births.

Confirmation of a diagnosis of TS is by karyotype but a suspected diagnosis can be made by a series of characteristic physical features i.e. web neck, broad chest and widely spaced nipples, low hairline and increased carrying angle of the elbows and other features. Two main clinical features of TS are short stature and non-functioning ovaries. Diagnosis can be made at birth if, for instance, a newborn needs heart surgery because of coarctation of the aorta or because of oedema of the hands and feet. Pre-natal diagnosis is sometimes made by chorionic villous sampling, amniocentesis or ultra sound. However, most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.

Girls with TS may have only a few or several of the features associated with TS, but short stature and infertility are nearly always present. The possibility of growth hormone treatment for short stature and IVF for infertility are options now available to those with TS.

The majority of girls and women with TS are healthy, happy and lead normal lives.

Turner Syndrome[TS]

Turner syndrome is named after an American endocrinologist Dr Henry Turner who, in 1938 described seven women patients with similar physical features including short stature and the absence of female sexual characteristics, increased skin folds in the neck and a wide carrying angle of the arms. Earlier [1930] a German paediatrician, Otto Ullrich, had described the same physical characteristics in female patients. TS is sometimes known as Ullrich-Turner syndrome. It was not until 1959 after the technique for analysing human chromosomes was developed that it was reported that one of the X chromosomes was missing in TS. Later it was shown that the X chromosome can be missing from just some of the body cells or only part of the X chromosome can be missing.


Chromosome analysis [karyotype] is how a diagnosis of TS is confirmed.

Chromosomes are genetic material inherited 50/50 from both parents. Normally each cell in the body has 23 pairs of chromosomes which make 46 chromosomes in total. One pair of chromosomes are the sex chromosomes and these determine the sex of a baby. In a male there will be an X and a Y chromosome[46XY] and in a female there will be two X chromosomes [46XX]. In TS there is only one X chromosome instead of the usual two [45X or 45XO] the O represents the missing X chromosome. The missing X chromosome, [from either the mother’s egg or the father’s sperm] is an accident and is lost during the cell division that follows conception. 45XO is known as classic TS. Sometimes the X chromosome is missing from only some of the cells [46XX/45XO] and this is known as Turner mosaic. There are a number of other variations in the karyotype for TS, including ring chromosomes. Sometimes a small part of a Y chromosome may be present in TS this is known as mixed gonadal dysgenesis. A geneticist will give a full description of a karyotype and genetic counselling is recommended for all those diagnosed as having TS.

Physical features and clinical characteristics

The term ‘syndrome’ is used to describe a collection or combination of symptoms which result from a single cause, it does not necessarily mean that all are present in the person who has a syndrome.

There are number of physical features and clinical characteristics which may or may not be present in the girl/woman with Turner syndrome. The following is not a comprehensive list but gives some of the possible features of TS.

Lymphoedema of hands and feet [puffy hands and feet]
Broad chest and widely spaced nipples
Droopy eyelids
Low hairline
Low-set ears
Spoon shaped, or small, or hyperconvex nails
Short fourth toe and short fingers
Web neck
High arch palate [which can sometimes lead to feeding problems in babies with TS]
Short stature
Cubitus Valgus[carrying angle of the arms where it is difficult to straighten the elbow]
Otitis media [middle ear infections]
Hearing problems
Myopia [short sightedness]
Pigmented naevi [moles]
High blood pressure
Kidney and urinary tract problems
Coarctation [narrowing or constriction of the aorta]
Thyroid problems
Small lower jaw [can lead to orthodontic problems]
Osteoporosis [due to lack of oestrogen, a result of ovarian failure]
Diabetes mellitus
Behavioural problems
Learning difficulties/spatial awareness problems [not mental retardation]


There are a number of treatments available to those with TS, and each girl/woman should be treated according to her individual needs.

TS is a ‘cradle to grave’ condition and as such should be treated throughout life in a variety of ways. The girl/woman with TS should be under the care of an endocrinologist [doctor specialising in hormones], initially a paediatric endocrinologist followed by attendance at an Adult TS clinic; there, in addition to an adult endocrinologist, there may be, for example, a gynaecologist/obstetrician present and possibly, hearing and cardiac specialists. A psychologist may also be available to help with problems which may arise from low self esteem and specific learning difficulties.

Those diagnosed in utero or at birth should be under the care of a paediatrician immediately after birth. Girls with TS usually grow at a normal rate until around 3 or 4 years of age when their growth may begin to slow down. In the majority of girls with TS it is possible to increase their final height potential with growth hormone[GH] treatment and this will be discussed with parents by a paediatric endocrinolgist. The success of growth hormone treatment depends on a number of factors such as the age at which GH treatment is started, compliance and when oestrogen is introduced. There is also the possible use of oxandrolone [an anobolic steriod] to promote growth, and again this will be discussed by the specialist. Oestrogen is used to induce secondary sexual characteristics i.e breast development and at an appropriate age is used with progestogen to induce withdrawal bleeds [periods]. Oestrogen is also important for proper mineralisation of bones. Women with TS are able to have an entirely normal sex life. Although girls/women with TS have non- functioning ovaries they have a normal uterus and vagina and it is possible that some women with TS will be able to have a child using a donor egg and IVF treatment. But as in the normal population this is not guaranteed.

Babies with TS born with a heart murmur or narrowing of the aorta [coarctation] will need an expert cardiological assessment and occasionally need surgery to correct the problem.
Girls with TS are more prone than others to middle ear infections, and recurrent infections can lead to deafness if not promptly treated. A consultation with an ear, nose and throat [ENT] specialist would be helpful. All adults with TS need regular hearing checks because a degree of hearing impairment is common.

High blood pressure is quite common in adolescents and adults with TS and should be checked regularly and if necessary treated. There is also a slightly higher risk of diabetes and thyroid gland disorders in women with TS, and this too should be checked.

Osteoporosis can be a problem due to the lack of oestrogen, and HRT [hormone replacement therapy] can possibly help in preventing the early onset of osteoporosis.

Regular health checks are a must for women with TS, and attendance at a specialist adult TS clinic is desirable. These clinics are specifically for women with TS and will usually have specialists from a variety of disciplines present. Ask your GP or contact the TSSS for details of the nearest clinic to where you live. Some hospitals have specialist adolescent clinics to aid the smooth transition from paediatric to adult care.

Occupational therapists, speech therapists, psychologists, educational psychologists, podiatrists, orthodontists, ENT, cardiologists, obstetrician/gynaecologists, endocrinologists, geneticists, dieticians, audiologists, endocrine nurses, ophthalmologists are all specialists in their fields who can possibly help in the care and treatment of those with Turner syndrome. There are also support organisations which can offer practical tips and contact with others with TS.

Turner Syndrome Support


For Further Information:

Turner Syndrome

Turner Syndrome


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